Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: COL4A3BP

Green List (high evidence)

COL4A3BP (collagen type IV alpha 3 binding protein)
EnsemblGeneIds (GRCh38): ENSG00000113163
EnsemblGeneIds (GRCh37): ENSG00000113163
OMIM: 604677, Gene2Phenotype
COL4A3BP is in 3 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, new approved HGNC gene symbol for COL4A3BP is CERT1
Created: 20 Jun 2019, 3:41 p.m. | Last Modified: 20 Jun 2019, 3:41 p.m.
Panel Version: 1.68

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: activating.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DISABILITY
Tags
new-gene-name
OMIM
604677
Clinvar variants
Variants in COL4A3BP
Penetrance
None
Publications
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

20 Jun 2019, Gel status: 3

Added Tag

Louise Daugherty (Genomics England Curator)

Tag new-gene-name tag was added to gene: COL4A3BP.

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Rebecca Foulger (Genomics England curator)

gene: COL4A3BP was added gene: COL4A3BP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL4A3BP were set to 25533962 Phenotypes for gene: COL4A3BP were set to INTELLECTUAL DISABILITY Mode of pathogenicity for gene: COL4A3BP was set to Other - please provide details in the comments